Variant report

Variant	nsv983360
Chromosome Location	chr12:104658134-104664572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:246)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:104659270-104659468	T-47D	breast:	n/a	n/a
2	CTCF	chr12:104659180-104659426	A549	lung:	n/a	n/a
3	CTCF	chr12:104659132-104659162	LNCaP	prostate:	n/a	n/a
4	CTCF	chr12:104658957-104659165	T-47D	breast:	n/a	n/a
5	EP300	chr12:104659275-104659480	T-47D	breast:	n/a	n/a
6	EP300	chr12:104657152-104658189	SK-N-SH	brain:	n/a	n/a
7	EP300	chr12:104658990-104659184	T-47D	breast:	n/a	n/a
8	FOS	chr12:104657474-104658164	MCF10A-Er-Src	breast:	n/a	n/a
9	GABPA	chr12:104658960-104659168	HepG2	liver:	n/a	n/a
10	GABPA	chr12:104658964-104659168	Hela-S3	cervix:	n/a	n/a
11	GABPA	chr12:104659007-104659172	HepG2	liver:	n/a	n/a
12	GABPA	chr12:104658960-104659164	GM12878	blood:	n/a	n/a
13	GABPA	chr12:104658956-104659109	Hela-S3	cervix:	n/a	n/a
14	GATA2	chr12:104658990-104659573	K562	blood:	n/a	n/a
15	GATA3	chr12:104657048-104658232	SK-N-SH	brain:	n/a	n/a
16	GATA3	chr12:104659008-104659177	T-47D	breast:	n/a	n/a
17	GATA3	chr12:104657046-104658213	SK-N-SH	brain:	n/a	n/a
18	HEY1	chr12:104659458-104659663	K562	blood:	n/a	n/a
19	HEY1	chr12:104658981-104659318	K562	blood:	n/a	n/a
20	HEY1	chr12:104658951-104659193	HepG2	liver:	n/a	n/a
21	HEY1	chr12:104658912-104659291	HepG2	liver:	n/a	n/a
22	HEY1	chr12:104658920-104659706	K562	blood:	n/a	n/a
23	JUND	chr12:104657147-104658162	SK-N-SH	brain:	n/a	n/a
24	MYC	chr12:104659042-104659174	MCF-7	breast:	n/a	n/a
25	NFIC	chr12:104657139-104658213	SK-N-SH	brain:	n/a	n/a
26	PAX5	chr12:104659336-104659666	GM12878	blood:	n/a	n/a
27	PAX5	chr12:104659170-104659735	GM12878	blood:	n/a	n/a
28	PAX5	chr12:104659350-104659625	GM12878	blood:	n/a	n/a
29	PAX5	chr12:104659384-104659580	GM12878	blood:	n/a	n/a
30	PBX3	chr12:104657016-104658202	SK-N-SH	brain:	n/a	chr12:104657311-104657320
31	PBX3	chr12:104659003-104659125	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:104658974-104659441	GM12891	blood:	n/a	n/a
33	POLR2A	chr12:104659934-104659940	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr12:104658998-104659119	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr12:104659018-104659224	A549	lung:	n/a	n/a
36	POLR2A	chr12:104658966-104659285	GM12892	blood:	n/a	n/a
37	POLR2A	chr12:104659280-104659684	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:104658883-104659712	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr12:104659062-104659259	HepG2	liver:	n/a	n/a
40	POLR2A	chr12:104658910-104659192	MCF-7	breast:	n/a	n/a
41	POLR2A	chr12:104658905-104659707	GM12892	blood:	n/a	n/a
42	POLR2A	chr12:104658996-104659228	GM12891	blood:	n/a	n/a
43	POLR2A	chr12:104659309-104659492	A549	lung:	n/a	n/a
44	POLR2A	chr12:104659003-104659675	GM12878	blood:	n/a	n/a
45	POLR2A	chr12:104658804-104659723	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:104659046-104659386	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr12:104658892-104659733	GM12892	blood:	n/a	n/a
48	POLR2A	chr12:104658995-104659126	HepG2	liver:	n/a	n/a
49	POLR2A	chr12:104658827-104659745	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr12:104658955-104659252	HepG2	liver:	n/a	n/a

(count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:104659097-104659147	ECC-1	luminal epithelium:	n/a
2	chr12:104662681-104662731	HCPEpiC	choroid plexus:	n/a
3	chr12:104659097-104659147	ECC-1	luminal epithelium:	n/a
4	chr12:104662681-104662731	HCPEpiC	choroid plexus:	n/a
5	chr12:104662681-104662731	LNCaP	prostate:	n/a
6	chr12:104659306-104659356	HL-60	blood:	n/a
7	chr12:104662681-104662731	MCF-7	breast:	n/a
8	chr12:104660671-104660721	U87	brain:	n/a
9	chr12:104659097-104659147	AoSMC	blood vessel:	n/a
10	chr12:104659097-104659147	U87	brain:	n/a
11	chr12:104662681-104662731	AG10803	skin:	n/a
12	chr12:104659097-104659147	HPAEpiC	pulmonary alveolar:	n/a
13	chr12:104662681-104662731	T-47D	breast:	n/a
14	chr12:104660671-104660721	MCF-7	breast:	n/a
15	chr12:104660671-104660721	HEK293	kidney:	embryo
16	chr12:104660671-104660721	HCF	heart:	n/a
17	chr12:104660671-104660721	MCF10A-Er-Src	breast:	n/a
18	chr12:104659306-104659356	ECC-1	luminal epithelium:	n/a
19	chr12:104659306-104659356	HRCEpiC	kidney:	n/a
20	chr12:104662681-104662731	PFSK-1	brain:	n/a
21	chr12:104660671-104660721	BE2_C	brain:	n/a
22	chr12:104659097-104659147	AG09309	skin:	n/a
23	chr12:104660671-104660721	PANC-1	pancreas:	n/a
24	chr12:104659306-104659356	AG04450	lung:	fetal
25	chr12:104659306-104659356	HCF	heart:	n/a
26	chr12:104662681-104662731	AG04450	lung:	fetal
27	chr12:104659097-104659147	HCM	heart:	n/a
28	chr12:104662681-104662731	Jurkat	blood:	n/a
29	chr12:104660671-104660721	AG09309	skin:	n/a
30	chr12:104662681-104662731	HUVEC	blood vessel:	n/a
31	chr12:104660671-104660721	H1-hESC	embryonic stem cell:	embryo
32	chr12:104662681-104662731	Caco-2	colon:	n/a
33	chr12:104660671-104660721	HRE	kidney:	n/a
34	chr12:104659097-104659147	PrEC	prostate:	n/a
35	chr12:104659306-104659356	H1-hESC	embryonic stem cell:	embryo
36	chr12:104659306-104659356	Jurkat	blood:	n/a
37	chr12:104660671-104660721	BJ	skin:	n/a
38	chr12:104662681-104662731	HRPEpiC	eye:	n/a
39	chr12:104659306-104659356	LNCaP	prostate:	n/a
40	chr12:104659097-104659147	PANC-1	pancreas:	n/a
41	chr12:104660671-104660721	GM12878	blood:	n/a
42	chr12:104660671-104660721	HPAEpiC	pulmonary alveolar:	n/a
43	chr12:104662681-104662731	BE2_C	brain:	n/a
44	chr12:104660671-104660721	K562	blood:	n/a
45	chr12:104659097-104659147	BE2_C	brain:	n/a
46	chr12:104662681-104662731	HL-60	blood:	n/a
47	chr12:104659097-104659147	SAEC	small airway:	n/a
48	chr12:104659097-104659147	AG04450	lung:	fetal
49	chr12:104660671-104660721	Hepatocyte	liver:	n/a
50	chr12:104660671-104660721	HNPCEpiC	eye:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104654376..104656180-chr12:104656602..104658713,2	K562	blood:
2	chr12:104663030..104665289-chr12:104680142..104682081,2	K562	blood:

No data

Variant related genes	Relation type
RPL18AP3	TF binding region
RPL18AP3	CpG island
ENSG00000198431	chromatin interactions

Extended variants
information (count: 304 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542624428	chr12:104658137-104658138	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs559712414	chr12:104658159-104658160	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs528509423	chr12:104658174-104658175	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs116949516	chr12:104658218-104658219	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs551284030	chr12:104658294-104658295	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs565079644	chr12:104658316-104658317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530970203	chr12:104658358-104658359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551753488	chr12:104658405-104658406	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs549486749	chr12:104658408-104658409	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs7135729	chr12:104658443-104658444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184382985	chr12:104658459-104658460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567590875	chr12:104658462-104658463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530441170	chr12:104658489-104658490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570153900	chr12:104658554-104658555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73180119	chr12:104658610-104658611	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs189482667	chr12:104658666-104658667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553340630	chr12:104658733-104658734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7970440	chr12:104658764-104658765	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192426772	chr12:104658783-104658784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12317878	chr12:104658800-104658801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569316355	chr12:104658805-104658806	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs147019713	chr12:104658810-104658811	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs569360699	chr12:104658856-104658857	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs34494070	chr12:104658859-104658860	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12299450	chr12:104658886-104658887	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540505879	chr12:104658890-104658891	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs553808079	chr12:104658914-104658915	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs184531860	chr12:104658920-104658921	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs545012466	chr12:104658942-104658943	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs564993106	chr12:104658965-104658966	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs530933678	chr12:104659001-104659002	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs143659779	chr12:104659010-104659011	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs561519477	chr12:104659024-104659025	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs537980669	chr12:104659029-104659030	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs530262472	chr12:104659038-104659039	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs71468207	chr12:104659040-104659041	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs7973318	chr12:104659041-104659042	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs547269865	chr12:104659042-104659043	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs567094094	chr12:104659045-104659046	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs141902128	chr12:104659072-104659073	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs3205274	chr12:104659078-104659079	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs35651749	chr12:104659095-104659096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs11553802	chr12:104659101-104659102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568942161	chr12:104659108-104659109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1804304	chr12:104659123-104659124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537951862	chr12:104659126-104659127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554739338	chr12:104659154-104659155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568223603	chr12:104659157-104659158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533793096	chr12:104659202-104659203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553994520	chr12:104659252-104659253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104652000-104669600	Weak transcription	Hela-S3	cervix
2	chr12:104652800-104673000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:104656200-104658200	Enhancers	A549	lung
4	chr12:104656200-104658400	Enhancers	HMEC	breast
5	chr12:104656400-104658200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:104656400-104658200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:104656600-104658200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:104656800-104658200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:104656800-104658200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:104656800-104658200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:104656800-104658200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr12:104656800-104658600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:104657000-104658200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:104657000-104658200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:104657000-104658200	Enhancers	HSMM	muscle
16	chr12:104657000-104658200	Enhancers	NHLF	lung
17	chr12:104657000-104658400	Enhancers	HSMMtube	muscle
18	chr12:104657000-104658800	Enhancers	NHDF-Ad	bronchial
19	chr12:104657200-104658200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr12:104657200-104658200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:104657200-104658200	Flanking Active TSS	NHEK	skin
22	chr12:104657200-104658400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr12:104657400-104658200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr12:104657400-104658200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr12:104657400-104658200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr12:104657400-104658200	Enhancers	NH-A	brain
27	chr12:104657400-104658400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:104657400-104658400	Enhancers	Osteobl	bone
29	chr12:104657600-104658200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:104657600-104658200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:104657600-104658200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:104657600-104658200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:104657600-104658200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:104657800-104658200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr12:104658200-104658400	Enhancers	NHEK	skin
36	chr12:104658200-104659800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:104658200-104664200	Weak transcription	A549	lung
38	chr12:104658200-104665600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:104658200-104670000	Weak transcription	NHLF	lung
40	chr12:104658200-104670200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:104658200-104670200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:104658200-104672800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:104659800-104660000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:104660000-104662000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:104663600-104670000	Weak transcription	Brain Substantia Nigra	brain
46	chr12:104664200-104664600	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links